ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.602+6_602+7dup

dbSNP: rs577627288
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000252266 SCV000242429 benign not specified 2013-10-04 criteria provided, single submitter clinical testing The variant is found in EPILEPSY,INFANT-EPI panel(s).
PreventionGenetics, part of Exact Sciences RCV000252266 SCV000307041 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000467090 SCV000559698 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494728 SCV002797176 likely benign Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 2022-02-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437037 SCV004147191 benign not provided 2023-10-01 criteria provided, single submitter clinical testing SCN1A: BP4, BS1, BS2

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.